Canonical Allele Identifier: CA272018691

Gene: SMAD6

Linked Data

• dbSNP Id: rs144982263
• gnomAD v2: 15-67066512-G-A
• gnomAD v3: 15-66774174-G-A
• gnomAD v4: 15-66774174-G-A
• MyVariant Identifiers: chr15:g.67066512G>A (hg19) ; chr15:g.66774174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66774174G>A , CM000677.2:g.66774174G>A	GRCh38
NC_000015.9:g.67066512G>A , CM000677.1:g.67066512G>A	GRCh37
NC_000015.8:g.64853566G>A	NCBI36
NG_012244.1:g.76839G>A
NG_012244.2:g.76839G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000288840.10:c.953-6823G>A MANE Select	ENSP00000288840.5:n.953-6823G>A
ENST00000288840.9:c.953-6823G>A	ENSP00000288840.5:n.953-6823G>A
ENST00000557916.5:c.1085-6823G>A	ENSP00000452955.1:n.1085-6823G>A
ENST00000559931.5:c.257-6823G>A	ENSP00000453446.1:n.257-6823G>A
NM_005585.4:c.953-6823G>A	NP_005576.3:n.953-6823G>A
NR_027654.1:n.2008-6823G>A
XM_011521561.1:c.170-6823G>A	XP_011519863.1:n.170-6823G>A
XR_931825.1:n.2352-6823G>A
XM_011521561.2:c.170-6823G>A	XP_011519863.1:n.170-6823G>A
NM_005585.5:c.953-6823G>A MANE Select	NP_005576.3:n.953-6823G>A
NR_027654.2:n.2108-6823G>A